Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report.

ABSTRACT: Systemic primary carnitine deficiency (SPCD) is a rare congenital fatty acid metabolism disorder causing impaired β-oxidation and energy production, leading to hypoglycemia, metabolic encephalopathy, and sudden death. Early diagnosis and treatment, including L-carnitine supplementation and fasting avoidance, can improve prognosis. However, newborn screening (NBS) criteria differ by region, and standardized guidelines are lacking. This report presents a case of SPCD undetected by NBS, resulting in basal ganglia damage and dystonia due to metabolic decompensation. A 1-year-9-month-old girl with no abnormalities on NBS presented with impaired consciousness. She exhibited hypoketotic hypoglycemia, hyperammonemia, and myocardial hypertrophy. Suspecting a fatty acid metabolism disorder, L-carnit

SUBMITTER: Saito T 

PROVIDER: S-EPMC11971050 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature